Lupus anticoagulant-hypoprothrombinemia syndrome (LAHPS) is an uncommon but significant hematological disorder characterized by the presence of lupus anticoagulant (LA) and reduced levels of prothrombin (factor II). This syndrome presents a unique clinical paradox where patients may experience both a bleeding tendency due to hypoprothrombinemia and a prothrombotic state associated with LA. This syndrome should be suspected in the presence of increased coagulation times (prothrombin time and activated partial thromboplastin time) in association with the presence of LA.
View Article and Find Full Text PDFBackground: The MDS-UPDRS has been available in English since 2008, showing satisfactory clinimetric results and being proposed as the new official benchmark scale for Parkinson's disease (PD), being cited as a core instrument for PD in the National Institutes of Neurological Disorders and Stroke Common Data Elements program. For this reason, the MDS created guidelines for development of MDS-UPDRS official, clinimetrically validated translations.
Objective: This study presents the formal process used to obtain the officially approved Portuguese version of the MDS-UPDRS.
Background: Handicap is a patient-centered measure of health status that encompasses the impact of social and physical environment on daily living, having been assessed in advanced and late-stage Parkinson's Disease (PD).
Objective: To characterize the handicap of a broader sample of patients.
Methods: A cross-sectional study of 405 PD patients during the MDS-UPDRS Portuguese validation study, using the MDS-UPDRS, Unified Dyskinesias Rating Scale, Nonmotor symptoms questionnaire, PDQ-8 and EQ-5D-3L.
Systemic lupus erythematosus (SLE) is a chronic immune-mediated inflammatory disease that affects predominantly females during childbearing age (Lateef and Petri Best Pract Res Clin Rheumatol 27(3):435-447, 2013). Fertility in SLE patients is considered to be normal (Clowse et al. Arthritis Care Res (Hoboken) 64(5):668-674, 2012; Ekblom-Kullberg et al.
View Article and Find Full Text PDFBackground And Aims: Quercus suber L. (cork oak) is one of the most important monoecious tree species in semi-arid regions of Southern Europe, with a high ecological value and economic potential. However, as a result of its long reproductive cycle, complex reproductive biology and recalcitrant seeds, conventional breeding is demanding.
View Article and Find Full Text PDFHereditary autosomal-recessive cerebellar ataxias are a genetically and clinically heterogeneous group of disorders. We used homozygosity mapping and exome sequencing to study a cohort of nine Portuguese families who were identified during a nationwide, population-based, systematic survey as displaying a consistent phenotype of recessive ataxia with oculomotor apraxia (AOA). The integration of data from these analyses led to the identification of the same homozygous PNKP (polynucleotide kinase 3'-phosphatase) mutation, c.
View Article and Find Full Text PDFPigmented Vilonodular Synovitis is a rare clinical entity characterized as a synovial membrane benign tumour, despite possible aggressive presentation with articular destruction. The localized variant is four times less frequent and the shoulder involvement is uncommon. We present the case of a Caucasian 59 year-old patient, who presented with left shoulder pain, of uncharacteristic quality, with local swelling and marked functional limitation of 1 month duration.
View Article and Find Full Text PDFPachydermodactyly is a superficial benign fibromatosis of unknown etiology; it is rare, more frequent in adolescent males, and characterized by painless swelling of the proximal interphalangeal joints(PIP) of the hands. Histologic examination of the skin shows epidermal hyperplasia and increased number of dermal fibroblasts and collagen fibers.We report the case of a 16-year-old adolescent boy who presented swelling of the lateral and dorsal regions of all the metacarpophalangeal and PIP joints of the left hand and PIP and metacarpophalangeal joints of the second and fifth fingers of the right hand, with 3 years of evolution and no arthritis or functional impairment.
View Article and Find Full Text PDFGuillain-Barré syndrome (GBS) is an autoimmune disease that leads to an axonal demyelination and/or degeneration of peripheral nerves through molecular mimicry. The usual pattern is an ascending areflexic motor paralysis with a distinct cerebral-spinal fluid (CSF) showing elevated protein level without accompanying pleocytosis. Diagnosis is essentially clinical, but the CSF studies and electrodiagnostic features may help confirming the diagnosis.
View Article and Find Full Text PDF